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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830040565
Gene: NARS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3175722
ClinVar RCV Id:
RCV004469531
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_078954.4:p.Ala39Ser
CA225113547
NM_024678.6:c.115G>T